Incidental Mutation 'IGL02453:Actr1b'
ID 293738
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actr1b
Ensembl Gene ENSMUSG00000037351
Gene Name ARP1 actin-related protein 1B, centractin beta
Synonyms 2310066K23Rik, Arp1b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.234) question?
Stock # IGL02453
Quality Score
Status
Chromosome 1
Chromosomal Location 36737195-36749051 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36741588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 51 (S51P)
Ref Sequence ENSEMBL: ENSMUSP00000124343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043951] [ENSMUST00000159448] [ENSMUST00000160084]
AlphaFold Q8R5C5
Predicted Effect probably damaging
Transcript: ENSMUST00000043951
AA Change: S95P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047326
Gene: ENSMUSG00000037351
AA Change: S95P

DomainStartEndE-ValueType
ACTIN 9 376 9.61e-203 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000159448
AA Change: S51P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124343
Gene: ENSMUSG00000037351
AA Change: S51P

DomainStartEndE-ValueType
ACTIN 2 149 1.29e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159675
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160043
Predicted Effect probably damaging
Transcript: ENSMUST00000160084
AA Change: S51P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125472
Gene: ENSMUSG00000037351
AA Change: S51P

DomainStartEndE-ValueType
Pfam:Actin 2 142 2.3e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162684
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 42.3 kD subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein and is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like ACTR1A, is an actin-related protein. These two proteins, which are of equal length and share 90% amino acid identity, are present in a constant ratio of approximately 1:15 in the dynactin complex. [provided by RefSeq, Aug 2008]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,950,075 (GRCm39) probably null Het
Cdhr3 T C 12: 33,092,502 (GRCm39) Y703C probably damaging Het
Col9a1 A T 1: 24,218,438 (GRCm39) L54F unknown Het
Crim1 A G 17: 78,651,913 (GRCm39) K546E probably damaging Het
Dap3 A G 3: 88,835,634 (GRCm39) V240A probably benign Het
Dmtf1l G T X: 125,722,223 (GRCm39) S294* probably null Het
Dmtf1l T C X: 125,722,686 (GRCm39) I140V possibly damaging Het
Hadha T C 5: 30,349,304 (GRCm39) probably benign Het
Imp3 G T 9: 56,845,293 (GRCm39) R168L probably benign Het
Or1b1 A T 2: 36,995,209 (GRCm39) V151E probably benign Het
Otop2 T A 11: 115,215,455 (GRCm39) Y125* probably null Het
Pacs1 A G 19: 5,185,033 (GRCm39) W931R probably damaging Het
Rasgrf1 A T 9: 89,826,813 (GRCm39) M141L possibly damaging Het
Ryr3 C A 2: 112,512,073 (GRCm39) probably benign Het
Strbp A T 2: 37,476,520 (GRCm39) probably null Het
Sult2a5 T A 7: 13,396,432 (GRCm39) M173K possibly damaging Het
Tmem63a G A 1: 180,790,634 (GRCm39) V431M probably benign Het
Vmn2r114 T A 17: 23,530,108 (GRCm39) T100S probably benign Het
Wdr45 T C X: 7,593,520 (GRCm39) probably null Het
Other mutations in Actr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02555:Actr1b APN 1 36,740,828 (GRCm39) missense probably damaging 1.00
R1267:Actr1b UTSW 1 36,739,185 (GRCm39) missense probably benign 0.11
R2064:Actr1b UTSW 1 36,741,168 (GRCm39) missense possibly damaging 0.83
R2231:Actr1b UTSW 1 36,739,440 (GRCm39) missense probably damaging 1.00
R4243:Actr1b UTSW 1 36,740,911 (GRCm39) missense possibly damaging 0.61
R4244:Actr1b UTSW 1 36,740,911 (GRCm39) missense possibly damaging 0.61
R4245:Actr1b UTSW 1 36,740,911 (GRCm39) missense possibly damaging 0.61
R5256:Actr1b UTSW 1 36,739,173 (GRCm39) missense probably benign 0.31
R5973:Actr1b UTSW 1 36,741,162 (GRCm39) missense probably damaging 1.00
R6267:Actr1b UTSW 1 36,740,244 (GRCm39) missense possibly damaging 0.63
R7213:Actr1b UTSW 1 36,741,221 (GRCm39) missense probably damaging 1.00
R7473:Actr1b UTSW 1 36,748,900 (GRCm39) missense probably benign 0.01
R8762:Actr1b UTSW 1 36,748,909 (GRCm39) missense probably benign 0.03
R8768:Actr1b UTSW 1 36,740,588 (GRCm39) missense probably benign 0.21
R9051:Actr1b UTSW 1 36,740,534 (GRCm39) missense probably benign 0.00
R9334:Actr1b UTSW 1 36,739,251 (GRCm39) missense probably damaging 1.00
R9372:Actr1b UTSW 1 36,741,561 (GRCm39) missense probably damaging 0.98
R9765:Actr1b UTSW 1 36,741,677 (GRCm39) missense probably benign 0.07
Z1176:Actr1b UTSW 1 36,740,289 (GRCm39) missense probably benign
Posted On 2015-04-16